A. Jamra, R. Becker, T. Georgi, A. Feulner, T. Schumacher et al., Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorder, Molecular Psychiatry, vol.45, issue.3, pp.277-284, 2008.
DOI : 10.1086/512133

D. Balatsouras, S. Korres, P. Manta, A. Panousopoulou, and D. Vassilopoulos, Cochlear Function in Facioscapulohumeral Muscular Dystrophy, Otology & Neurotology, vol.28, issue.1, pp.7-10, 2007.
DOI : 10.1097/01.mao.0000244362.39696.c8

C. Bendavid, L. Pasquier, T. Watrin, K. Morcel, J. Lucas et al., Phenotypic variability of a 4q34???qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother, European Journal of Medical Genetics, vol.50, issue.1, pp.66-72, 2007.
DOI : 10.1016/j.ejmg.2006.09.003

F. Bennett and K. Harvey, Fat Cadherin Modulates Organ Size in Drosophila via the Salvador/Warts/Hippo Signaling Pathway, Current Biology, vol.16, issue.21, pp.2101-2110, 2006.
DOI : 10.1016/j.cub.2006.09.045

A. Bird, DNA methylation patterns and epigenetic memory, Genes & Development, vol.16, issue.1, pp.6-21, 2002.
DOI : 10.1101/gad.947102

URL : http://genesdev.cshlp.org/content/16/1/6.full.pdf

I. Blair, A. Chetcuti, R. Badenhop, A. Scimone, M. Moses et al., Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele, Molecular Psychiatry, vol.8, issue.4, pp.372-383, 2006.
DOI : 10.1038/sj.mp.4001306

M. Blewitt, A. Gendrel, Z. Pang, D. Sparrow, N. Whitelaw et al., SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation, Nature Genetics, vol.102, issue.5, pp.663-669, 2008.
DOI : 10.1073/pnas.0507816102

C. De-bock, A. Ardjmand, T. Molloy, S. Bone, D. Johnstone et al., The Fat1 cadherin is overexpressed and an independent prognostic factor for survival in paired diagnosis???relapse samples of precursor B-cell acute lymphoblastic leukemia, Leukemia, vol.173, issue.5, pp.918-926, 2012.
DOI : 10.1083/jcb.200508121

N. Broucqsault, J. Morere, M. Gaillard, J. Dumonceaux, J. Torrents et al., Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy, Human Molecular Genetics, vol.22, issue.20, pp.4206-4214, 2013.
DOI : 10.1093/hmg/ddt272

N. Caruso, B. Herberth, M. Bartoli, F. Puppo, J. Dumonceaux et al., Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy, PLoS Genetics, vol.107, issue.6, p.1003550, 2013.
DOI : 10.1371/journal.pgen.1003550.s017

URL : https://hal.archives-ouvertes.fr/hal-00862092

E. Cho, Y. Feng, C. Rauskolb, S. Maitra, R. Fehon et al., Delineation of a Fat tumor suppressor pathway, Nature Genetics, vol.210, issue.10, pp.1142-1150, 2006.
DOI : 10.1006/dbio.1999.9273

L. Ciani, A. Patel, N. Allen, and C. Ffrench-constant, Mice Lacking the Giant Protocadherin mFAT1 Exhibit Renal Slit Junction Abnormalities and a Partially Penetrant Cyclopia and Anophthalmia Phenotype, Molecular and Cellular Biology, vol.23, issue.10, pp.3575-3582, 2003.
DOI : 10.1128/MCB.23.10.3575-3582.2003

F. Desmet, D. Hamroun, M. Lalande, G. Collod-béroud, M. Claustres et al., Human Splicing Finder: an online bioinformatics tool to predict splicing signals, Nucleic Acids Research, vol.37, issue.9, p.67, 2009.
DOI : 10.1093/nar/gkp215

URL : https://hal.archives-ouvertes.fr/inserm-00396239

J. Van-deutekom, C. Wijmenga, E. Van-tienhoven, A. Gruter, J. Hewitt et al., FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit, Human Molecular Genetics, vol.2, issue.12, pp.2037-2042, 1993.
DOI : 10.1093/hmg/2.12.2037

M. Dixit, E. Ansseau, A. Tassin, S. Winokur, R. Shi et al., DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1, Proceedings of the National Academy of Sciences, vol.83, issue.3, pp.18157-18162, 2007.
DOI : 10.1007/s00109-004-0583-7

M. Ehrlich, M. Gama-sosa, L. Huang, R. Midgett, K. Kuo et al., Amount and distribution of 5-methylcytosine in human DNA from different types of tissues or cells, Nucleic Acids Research, vol.10, issue.8, pp.2709-2721, 1982.
DOI : 10.1093/nar/10.8.2709

J. Gabriëls, M. Beckers, H. Ding, D. Vriese, A. Plaisance et al., Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element, Gene, vol.236, issue.1, pp.25-32, 1999.
DOI : 10.1016/S0378-1119(99)00267-X

P. Gaildrat, A. Killian, A. Martins, I. Tournier, T. Frébourg et al., Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants, Methods Mol Biol Clifton NJ, vol.653, pp.249-257, 2010.
DOI : 10.1007/978-1-60761-759-4_15

M. Gaillard, S. Roche, C. Dion, A. Tasmadjian, G. Bouget et al., Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers, Neurology, vol.83, issue.8, pp.733-742, 2014.
DOI : 10.1212/WNL.0000000000000708

URL : https://hal.archives-ouvertes.fr/hal-01610019

A. Gendrel, A. Apedaile, H. Coker, A. Termanis, I. Zvetkova et al., Smchd1-Dependent and -Independent Pathways Determine Developmental Dynamics of CpG Island Methylation on the Inactive X Chromosome, Developmental Cell, vol.23, issue.2, pp.265-279, 2012.
DOI : 10.1016/j.devcel.2012.06.011

R. Hou and N. Sibinga, Atrophin Proteins Interact with the Fat1 Cadherin and Regulate Migration and Orientation in Vascular Smooth Muscle Cells, Journal of Biological Chemistry, vol.71, issue.11, pp.6955-6965, 2009.
DOI : 10.1016/j.yexcr.2005.03.006

T. Jones, J. Chen, F. Rahimov, S. Homma, P. Arashiro et al., Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis, Human Molecular Genetics, vol.21, issue.20, pp.4419-4430, 2012.
DOI : 10.1093/hmg/dds284

Y. Jung and T. Jun, Association between FAT Gene and Schizophrenia in the Korean Population, Clinical Psychopharmacology and Neuroscience, vol.11, issue.2, pp.67-71, 2013.
DOI : 10.9758/cpn.2013.11.2.67

J. Besancon, L. Pequignot, H. Contamin, F. Delavierre, P. et al., [Myopathy of the landouzy-d'ejerine type, pp.2990-2999, 1964.

V. Kergourlay, G. Ra¨?ra¨?, G. Blandin, D. Salgado, C. Béroud et al., Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene, Human Mutation, vol.27, issue.12, pp.1532-1573, 2014.
DOI : 10.1002/humu.9424

URL : https://hal.archives-ouvertes.fr/hal-01610021

S. Kitsiou-tzeli, C. Sismani, G. Koumbaris, M. Ioannides, E. Kanavakis et al., Distal del(4) (q33) syndrome: Detailed clinical presentation and molecular description with array-CGH, European Journal of Medical Genetics, vol.51, issue.1, pp.61-67, 2008.
DOI : 10.1016/j.ejmg.2007.09.004

M. Larsen, S. Rost, E. Hajj, N. Ferbert, A. Deschauer et al., Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1, European Journal of Human Genetics, vol.2, issue.6, 2014.
DOI : 10.1016/j.nmd.2011.09.004

S. Lee, S. Stewart, I. Nagtegaal, J. Luo, Y. Wu et al., Differentially Expressed Genes Regulating the Progression of Ductal Carcinoma In Situ to Invasive Breast Cancer, Cancer Research, vol.72, issue.17, pp.4574-4586, 2012.
DOI : 10.1158/0008-5472.CAN-12-0636

R. Lemmers, J. Goeman, . Van-der, P. Vliet, M. Van-nieuwenhuizen et al., Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2, Human Molecular Genetics, vol.24, issue.3, pp.659-669, 2015.
DOI : 10.1093/hmg/ddu486

R. Lemmers, P. De-kievit, L. Sandkuijl, G. Padberg, G. Van-ommen et al., Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere, Nature Genetics, vol.205, issue.2, pp.235-236, 2002.
DOI : 10.1038/ng0295-132

R. Lemmers, R. Tawil, L. Petek, J. Balog, G. Block et al., Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2, Nature Genetics, vol.867, issue.12, pp.1370-1374, 2012.
DOI : 10.1007/978-1-61779-767-5_8

URL : https://hal.archives-ouvertes.fr/hal-00770764

R. Lemmers, . Van-der, P. Vliet, R. Klooster, S. Sacconi et al., A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy, Science, vol.30, issue.10, pp.1650-1653, 2010.
DOI : 10.1002/humu.21091

URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677822/pdf

R. Lemmers, M. Wohlgemuth, K. Van-der-gaag, . Van-der, P. Vliet et al., Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy, The American Journal of Human Genetics, vol.81, issue.5, pp.884-894, 2007.
DOI : 10.1086/521986

M. Moeller, A. Soofi, G. Braun, X. Li, C. Watzl et al., Protocadherin FAT1 binds Ena/VASP proteins and is necessary for actin dynamics and cell polarization, The EMBO Journal, vol.13, issue.19, pp.3769-3779, 2004.
DOI : 10.1016/S0092-8674(02)00658-X

URL : http://embojnl.embopress.org/content/embojnl/23/19/3769.full.pdf

L. Morris, A. Kaufman, Y. Gong, D. Ramaswami, L. Walsh et al., Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation, Nature Genetics, vol.8, issue.3, pp.253-261, 2013.
DOI : 10.1093/bioinformatics/btm339

L. Morris, D. Ramaswami, and T. Chan, The FAT epidemic: A gene family frequently mutated across multiple human cancer types, Cell Cycle, vol.279, issue.7, pp.1011-1012, 2013.
DOI : 10.1074/jbc.M313878200

C. Ockey, G. Feldman, M. Macaulay, and M. Delaney, A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities., Archives of Disease in Childhood, vol.42, issue.224, pp.428-434, 1967.
DOI : 10.1136/adc.42.224.428

P. Van-overveld, R. Lemmers, L. Sandkuijl, L. Enthoven, S. Winokur et al., Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy, Nature Genetics, vol.35, issue.4, pp.315-317, 2003.
DOI : 10.1038/ng1262

P. Van-overveld, R. Lemmers, G. Deidda, L. Sandkuijl, G. Padberg et al., Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity, Human Molecular Genetics, vol.9, issue.19, pp.2879-2884, 2000.
DOI : 10.1093/hmg/9.19.2879

G. Padberg, P. Lunt, M. Koch, and M. Fardeau, Diagnostic criteria for facioscapulohumeral muscular dystrophy, Neuromuscular Disorders, vol.1, issue.4, pp.231-234, 1991.
DOI : 10.1016/0960-8966(91)90094-9

M. Richards, F. Coppée, N. Thomas, A. Belayew, and M. Upadhyaya, Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?, Human Genetics, vol.44, issue.3, pp.325-340, 2012.
DOI : 10.1016/S0003-3995(01)01075-9

URL : https://link.springer.com/content/pdf/10.1007%2Fs00439-011-1100-z.pdf

S. Sacconi, R. Lemmers, J. Balog, . Van-der, P. Vliet et al., The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1, The American Journal of Human Genetics, vol.93, issue.4, pp.744-751, 2013.
DOI : 10.1016/j.ajhg.2013.08.004

URL : https://hal.archives-ouvertes.fr/hal-00868887

Y. Saito, S. Miyashita, A. Yokoyama, H. Komaki, A. Seki et al., Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy, Brain and Development, vol.29, issue.4, pp.231-233, 2007.
DOI : 10.1016/j.braindev.2006.08.012

I. Scionti, G. Fabbri, C. Fiorillo, G. Ricci, F. Greco et al., Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling, Journal of Medical Genetics, vol.49, issue.3, pp.171-178, 2012.
DOI : 10.1136/jmedgenet-2011-100454

I. Scionti, F. Greco, G. Ricci, M. Govi, P. Arashiro et al., Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy, The American Journal of Human Genetics, vol.90, issue.4, pp.628-635, 2012.
DOI : 10.1016/j.ajhg.2012.02.019

K. Skouloudaki, M. Puetz, M. Simons, J. Courbard, C. Boehlke et al., Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development, Proceedings of the National Academy of Sciences, vol.309, issue.1, pp.8579-8584, 2009.
DOI : 10.1016/j.ydbio.2007.06.022

G. Spurlock, H. Jim, and M. Upadhyaya, Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families, Muscle & Nerve, vol.81, issue.5, pp.820-821, 2010.
DOI : 10.1086/521986

C. Vanderplanck, E. Ansseau, S. Charron, N. Stricwant, A. Tassin et al., The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression, PLoS ONE, vol.6, issue.10, p.26820, 2011.
DOI : 10.1371/journal.pone.0026820.s007

URL : https://doi.org/10.1371/journal.pone.0026820

W. Wallefeld, S. Krause, K. Nowak, D. Dye, R. Horváth et al., Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1), Neuromuscular Disorders, vol.16, issue.9-10, pp.541-547, 2006.
DOI : 10.1016/j.nmd.2006.07.018

K. Wang, M. Li, and H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, Nucleic Acids Research, vol.38, issue.16, p.164, 2010.
DOI : 10.1093/nar/gkq603

N. Wein, A. Avril, M. Bartoli, C. Beley, S. Chaouch et al., Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping, Human Mutation, vol.56, issue.2, pp.136-142, 2010.
DOI : 10.1002/humu.21160

URL : https://hal.archives-ouvertes.fr/hal-01610031

C. Wijmenga, R. Frants, O. Brouwer, P. Moerer, J. Weber et al., Location of facioscapulohumeral muscular dystrophy gene on chromosome 4, The Lancet, vol.336, issue.8716, pp.651-653, 1990.
DOI : 10.1016/0140-6736(90)92148-B

M. Wohlgemuth, E. Van-der-kooi, R. Van-kesteren, S. Van-der-maarel, and G. Padberg, Ventilatory support in facioscapulohumeral muscular dystrophy, Neurology, vol.63, issue.1, pp.176-178, 2004.
DOI : 10.1212/01.WNL.0000133126.86377.E8

URL : http://rc.kfshrc.edu.sa/rcf/e_library/nmdr/ventilatory support in fshd.pdf

G. Yamanaka, K. Goto, T. Ishihara, Y. Oya, T. Miyajima et al., FSHD-like patients without 4q35 deletion, Journal of the Neurological Sciences, vol.219, issue.1-2, pp.89-93, 2004.
DOI : 10.1016/j.jns.2003.12.010